A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999359



Internal ID19158895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570842..68674295hg38UCSC Ensembl
Innerchr4:69436560..69540013hg19UCSC Ensembl
Innerchr4:69119155..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38103454
hg19103454
hg18103454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5279n100
Supporting Variantsnssv3628984, nssv3628988, nssv3628985, nssv3628981, nssv3628977, nssv3628978, nssv3628979, nssv3628989, nssv3628982, nssv3628980, nssv3628986, nssv3628983, nssv3628990, nssv3628987, nssv3628976
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999359
Frequency
Sample Size11257
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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